Canonical Allele Identifier: CA5253087

Gene: ENG

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127825819C>T , CM000671.2:g.127825819C>T	GRCh38
NC_000009.11:g.130588098C>T , CM000671.1:g.130588098C>T	GRCh37
NC_000009.10:g.129627919C>T	NCBI36
NG_009551.1:g.33950G>A , LRG_589:g.33950G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001114753.3:c.565G>A MANE Select	NP_001108225.1:p.Asp189Asn
ENST00000373203.9:c.565G>A MANE Select	ENSP00000362299.4:p.Asp189Asn
NM_000118.3:c.565G>A , LRG_589t1:c.565G>A	NP_000109.1:p.Asp189Asn
NM_001114753.2:c.565G>A , LRG_589t2:c.565G>A	NP_001108225.1:p.Asp189Asn
NM_001278138.1:c.19G>A	NP_001265067.1:p.Asp7Asn
NM_001278138.2:c.19G>A	NP_001265067.1:p.Asp7Asn
ENST00000344849.4:c.565G>A	ENSP00000341917.3:p.Asp189Asn
ENST00000373203.8:c.565G>A	ENSP00000362299.4:p.Asp189Asn
ENST00000462196.1:n.465G>A
ENST00000480266.5:c.19G>A	ENSP00000479015.1:p.Asp7Asn
ENST00000480266.6:c.19G>A	ENSP00000479015.1:p.Asp7Asn
XR_001746952.2:n.82+361C>T